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Cleft-lip mutations may hinder virus

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12:25pm, April 14, 2003

More than 500 years ago, Spanish explorers settled Margarita Island, near Venezuela.  Today, 1 in every 2000 of their descendants born on the island has dry, scaly skin, brittle hair, missing or peg-shaped teeth, partial fusion of the fingers, and a cleft lip or palate.  Richard Spritz, a geneticist at the University of Colorado in Denver, thinks he knows why.

In the August Nature Genetics, a team led by Spritz reports finding the mutated gene responsible for the syndrome.  The recessive mutation also may confer an anti-viral advantage to people who carry one copy of this gene, he adds.

Cleft lip and palate are among the most common birth defects in the world.  Seventy percent of these defects occur as isolated abnormalities.  They show up in as many as 1 in 500 births worldwide, but on Margarita Island, the rate is nearly three times as high.

Spritz' team sought a single gene behind the island's syndrome.  The group suspected that

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